Incidental Mutation 'R1385:Itgbl1'
| ID |
163234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgbl1
|
| Ensembl Gene |
ENSMUSG00000032925 |
| Gene Name |
integrin, beta-like 1 |
| Synonyms |
with EGF-like repeat domains, B930011D01Rik |
| MMRRC Submission |
039447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1385 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
123897383-124213030 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 123898923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049681]
[ENSMUST00000132026]
[ENSMUST00000132026]
[ENSMUST00000142161]
|
| AlphaFold |
Q8VDV0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049681
|
| SMART Domains |
Protein: ENSMUSP00000059019
Gene: ENSMUSG00000032925
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
62 |
164 |
7.9e-12 |
PROSPERO |
|
EGF_like
|
184 |
217 |
6.95e1 |
SMART |
|
EGF
|
275 |
311 |
2.25e1 |
SMART |
|
low complexity region
|
335 |
348 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
368 |
398 |
3.6e-8 |
PFAM |
|
low complexity region
|
423 |
438 |
N/A |
INTRINSIC |
|
low complexity region
|
448 |
456 |
N/A |
INTRINSIC |
|
Blast:EGF_like
|
457 |
486 |
4e-9 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132026
|
| SMART Domains |
Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
22 |
50 |
3.54e-8 |
PROSPERO |
|
internal_repeat_1
|
23 |
87 |
7.45e-14 |
PROSPERO |
|
low complexity region
|
101 |
126 |
N/A |
INTRINSIC |
|
EGF
|
151 |
187 |
2.25e1 |
SMART |
|
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
239 |
274 |
1.5e-7 |
PFAM |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
332 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
334 |
362 |
3.54e-8 |
PROSPERO |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132026
|
| SMART Domains |
Protein: ENSMUSP00000115455
Gene: ENSMUSG00000032925
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
22 |
50 |
3.54e-8 |
PROSPERO |
|
internal_repeat_1
|
23 |
87 |
7.45e-14 |
PROSPERO |
|
low complexity region
|
101 |
126 |
N/A |
INTRINSIC |
|
EGF
|
151 |
187 |
2.25e1 |
SMART |
|
low complexity region
|
211 |
224 |
N/A |
INTRINSIC |
|
Pfam:EGF_2
|
239 |
274 |
1.5e-7 |
PFAM |
|
low complexity region
|
299 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
324 |
332 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
334 |
362 |
3.54e-8 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142161
|
| SMART Domains |
Protein: ENSMUSP00000121659
Gene: ENSMUSG00000032925
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
PDB:4G1E|B
|
59 |
171 |
1e-17 |
PDB |
|
Blast:EGF_like
|
90 |
127 |
5e-15 |
BLAST |
|
low complexity region
|
178 |
192 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh7a1 |
A |
G |
18: 56,675,357 (GRCm39) |
S269P |
probably damaging |
Het |
| Arf3 |
A |
G |
15: 98,640,494 (GRCm39) |
V43A |
probably damaging |
Het |
| Arhgap1 |
C |
A |
2: 91,501,176 (GRCm39) |
N457K |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Bltp3b |
A |
G |
10: 89,626,503 (GRCm39) |
N399S |
possibly damaging |
Het |
| Ccdc39 |
C |
T |
3: 33,875,561 (GRCm39) |
E544K |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,291,138 (GRCm39) |
E1546G |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,838,861 (GRCm39) |
I900V |
probably benign |
Het |
| Edem1 |
A |
G |
6: 108,823,645 (GRCm39) |
N347S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,544,251 (GRCm39) |
I112T |
probably benign |
Het |
| Gemin2 |
A |
G |
12: 59,064,932 (GRCm39) |
|
probably null |
Het |
| Hunk |
T |
A |
16: 90,269,374 (GRCm39) |
V306E |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,249,836 (GRCm39) |
I2260V |
probably benign |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Iws1 |
T |
A |
18: 32,223,483 (GRCm39) |
N630K |
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,100,039 (GRCm39) |
R822L |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,785,438 (GRCm39) |
D130G |
probably damaging |
Het |
| Mageb11 |
T |
A |
X: 89,935,874 (GRCm39) |
C43S |
probably benign |
Het |
| Malrd1 |
A |
T |
2: 16,047,039 (GRCm39) |
I1722F |
unknown |
Het |
| Mark4 |
G |
T |
7: 19,159,952 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,415,874 (GRCm39) |
V2940A |
probably benign |
Het |
| Mxd1 |
T |
A |
6: 86,628,549 (GRCm39) |
Q62L |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
| Nr2c2 |
T |
G |
6: 92,131,451 (GRCm39) |
F171C |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,102,356 (GRCm39) |
Q675L |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ocstamp |
T |
C |
2: 165,237,959 (GRCm39) |
D435G |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,411,108 (GRCm39) |
T553A |
probably benign |
Het |
| Pllp |
A |
G |
8: 95,405,996 (GRCm39) |
Y96H |
probably benign |
Het |
| Polg2 |
A |
G |
11: 106,659,149 (GRCm39) |
S455P |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,883,037 (GRCm39) |
T222A |
probably benign |
Het |
| Prkcd |
G |
A |
14: 30,329,362 (GRCm39) |
T26I |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,261,097 (GRCm39) |
H383R |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,102,312 (GRCm39) |
I2490M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Scn9a |
G |
A |
2: 66,393,886 (GRCm39) |
P229L |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,803,853 (GRCm39) |
T180A |
probably damaging |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,361,715 (GRCm39) |
I82T |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Treml1 |
T |
G |
17: 48,667,226 (GRCm39) |
V37G |
probably damaging |
Het |
| Trim33 |
A |
G |
3: 103,218,266 (GRCm39) |
K272E |
possibly damaging |
Het |
| Trpv6 |
T |
C |
6: 41,598,063 (GRCm39) |
D748G |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,129,923 (GRCm39) |
H681R |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,232,325 (GRCm39) |
R775* |
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,211,863 (GRCm39) |
L8S |
probably damaging |
Het |
| Zfand4 |
G |
A |
6: 116,250,599 (GRCm39) |
G10R |
probably damaging |
Het |
| Zfp119a |
T |
A |
17: 56,172,826 (GRCm39) |
H339L |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
|
| Other mutations in Itgbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Itgbl1
|
APN |
14 |
124,083,844 (GRCm39) |
splice site |
probably benign |
|
|
IGL01290:Itgbl1
|
APN |
14 |
124,204,137 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01618:Itgbl1
|
APN |
14 |
124,065,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02024:Itgbl1
|
APN |
14 |
124,094,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Itgbl1
|
APN |
14 |
124,081,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02215:Itgbl1
|
APN |
14 |
124,209,553 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02400:Itgbl1
|
APN |
14 |
124,083,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02483:Itgbl1
|
APN |
14 |
124,065,155 (GRCm39) |
splice site |
probably benign |
|
|
BB002:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
BB012:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
H8441:Itgbl1
|
UTSW |
14 |
124,210,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0137:Itgbl1
|
UTSW |
14 |
124,078,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0193:Itgbl1
|
UTSW |
14 |
124,083,958 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0355:Itgbl1
|
UTSW |
14 |
124,077,997 (GRCm39) |
nonsense |
probably null |
|
|
R0598:Itgbl1
|
UTSW |
14 |
124,094,848 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0662:Itgbl1
|
UTSW |
14 |
124,065,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Itgbl1
|
UTSW |
14 |
124,065,259 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1957:Itgbl1
|
UTSW |
14 |
124,204,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3739:Itgbl1
|
UTSW |
14 |
124,204,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3842:Itgbl1
|
UTSW |
14 |
124,077,977 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4434:Itgbl1
|
UTSW |
14 |
124,209,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4463:Itgbl1
|
UTSW |
14 |
124,078,080 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4696:Itgbl1
|
UTSW |
14 |
124,204,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4937:Itgbl1
|
UTSW |
14 |
124,210,780 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5087:Itgbl1
|
UTSW |
14 |
124,204,151 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5747:Itgbl1
|
UTSW |
14 |
124,209,576 (GRCm39) |
nonsense |
probably null |
|
|
R6020:Itgbl1
|
UTSW |
14 |
124,083,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6169:Itgbl1
|
UTSW |
14 |
123,897,790 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6758:Itgbl1
|
UTSW |
14 |
124,094,901 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7213:Itgbl1
|
UTSW |
14 |
124,210,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Itgbl1
|
UTSW |
14 |
124,081,316 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7378:Itgbl1
|
UTSW |
14 |
124,094,901 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7461:Itgbl1
|
UTSW |
14 |
124,065,211 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7664:Itgbl1
|
UTSW |
14 |
124,083,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Itgbl1
|
UTSW |
14 |
124,209,645 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7925:Itgbl1
|
UTSW |
14 |
124,210,735 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8115:Itgbl1
|
UTSW |
14 |
124,094,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Itgbl1
|
UTSW |
14 |
124,065,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8778:Itgbl1
|
UTSW |
14 |
124,078,075 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8978:Itgbl1
|
UTSW |
14 |
124,209,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9186:Itgbl1
|
UTSW |
14 |
124,094,970 (GRCm39) |
missense |
probably benign |
|
|
V1024:Itgbl1
|
UTSW |
14 |
124,210,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0012:Itgbl1
|
UTSW |
14 |
123,898,717 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0017:Itgbl1
|
UTSW |
14 |
124,209,623 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1176:Itgbl1
|
UTSW |
14 |
124,192,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTGGCCCACAGAGAAATGAGG -3'
(R):5'- TCCATGATTAGGAGCCACAGGAGAG -3'
Sequencing Primer
(F):5'- AGTCCGAACGCAGATGTCG -3'
(R):5'- CCACAGGAGAGGCAAGTG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation